SRD5A1基因多态性与寻常型痤疮易感性关系的研究

Possible association of SRD5A1 gene polymorphisms with the susceptibility to acne vulgaris in the Han Chinese

目的探讨SRD5A1基因的单核苷酸多态性与汉族人群寻常型痤疮的遗传易感性之间的相关性。方法从378例寻常痤疮患者和200名健康受试者的外周血分离基因组DNA。设计特异性引物,对SRD5A1基因的5个外显子进行PCR扩增并行DNA测序。结果在SRD5A1基因的5个外显子共发现4个单核苷酸基因多态性位点,分别为rs248793,rs3822430,rs8192186和rs3736316。rs8192186和rs3736316在重型痤疮组和对照组及轻型痤疮组中等位基因频率和基因型频率有显著差异,在重型痤疮组呈现频率更高的等位基因G和GG基因型。此外,rs3822430在重型痤疮组不存在GG基因型,rs8192186和rs3736316不存在AA基因型。结论 rs8192186和rs3736316两个同义的单核苷酸多态性可能在SRD5A1的表达和对重型痤疮的易感性上具有潜在的作用。rs3822430具有GG基因型或rs8192186及rs3736316具有AA基因型的患者可能具有患重型痤疮更低的风险。

Objective To investigate the association between SNPs of SRDSA1 gene and acne vulgaris susceptibility in Han Chinese. Methods Genomic DNA was isolated from 378 patients with ache vulgaris and 200 healthy subjects. Five exons of SRDSA1 gene was amplified by PCR method and then DNA sequencing was done. Results Four SNPs （rs248793, rs3822430, rs8192186 and rs3736316） was found. The cases with severe acne vulgaris presented more frequencies of G and GG genotype at rs8192186 and rs3736316. In the severe acne group, neither GG genotype at rs3822430 nor AA genotype at rs8192186 and rs3736316 it was found. Conclusion The synonymous SNPs at rs8192186 and rs3736316 may play a potential role on the expression of SRDSA1 and the susceptibility to severe acne. The patients with GG genotype at rs3822430 or AA genotype at rs8192186 and rs3736316 might suffer few risks of severe acne vulgaris. The above genotypes might provide a protection from severe aene.